HYAL1 E268K/V251_V262delinsFRVA Q263fs*20 [lysosomal lumen]

Stable Identifier
R-HSA-2318714
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
HYAL1, Hyaluronidase-1, HYAL1_HUMAN, c.1361del37ins14/p.E268K HYAL1
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
HYAL1, LUCA1
Chain
signal peptide:1-21, chain:22-435
Other Identifiers
0001580300
0004760113
0004780162
11740989_a_at
11740990_x_at
11751860_a_at
11751861_x_at
11753209_a_at
11753210_x_at
11755620_a_at
1546_at
16954401
210619_s_at
2675141
2675147
2675149
2675151
2675152
2675153
2675155
2675156
2675157
2675158
2675159
2675160
2675161
2675162
2675163
2675164
2675165
2675166
3373
37176_at
3809823
8087611
A_23_P69329
A_24_P208774
GE58858
GO:0000278
GO:0000302
GO:0003674
GO:0003824
GO:0004415
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005737
GO:0005764
GO:0005773
GO:0005975
GO:0006790
GO:0006950
GO:0006954
GO:0007049
GO:0007155
GO:0008134
GO:0008150
GO:0008152
GO:0008283
GO:0009056
GO:0009058
GO:0009615
GO:0009790
GO:0010634
GO:0016757
GO:0016787
GO:0016798
GO:0022607
GO:0030207
GO:0030212
GO:0030213
GO:0030214
GO:0030307
GO:0030308
GO:0031410
GO:0036117
GO:0036120
GO:0040007
GO:0040011
GO:0043202
GO:0043226
GO:0044281
GO:0044344
GO:0044403
GO:0045766
GO:0045785
GO:0045927
GO:0046677
GO:0046718
GO:0048646
GO:0048856
GO:0048870
GO:0050501
GO:0050679
GO:0051216
GO:0060272
GO:0070062
GO:0071347
GO:0071356
GO:0071467
GO:0071493
GO:1900087
GO:1900106
ILMN_1693230
ILMN_1712620
ILMN_1739813
ILMN_2314417
PH_hs_0004350
TC03001427.hg
U03056_at
g5825510_3p_a_at
Other forms of this molecule
Modified Residues
Name
Deletion of residues 251 to 262
Name
Insertion of residues 270 to 273 at 251 from UniProt:Q12794 HYAL1
Coordinate
251
Name
L-glutamine 263 replaced with L-arginine
Coordinate
263
PsiMod
A protein modification that effectively converts a source amino acid residue to an L-arginine.
A protein modification that effectively removes or replaces an L-glutamine.
Name
L-histidine 264 replaced with L-isoleucine
Coordinate
264
PsiMod
A protein modification that effectively removes or replaces an L-histidine.
A protein modification that effectively converts a source amino acid residue to an L-isoleucine.
Name
L-arginine 265 replaced with L-proline
Coordinate
265
PsiMod
A protein modification that effectively converts a source amino acid residue to L-proline.
A protein modification that effectively removes or replaces an L-arginine.
Name
L-valine 266 replaced with L-cysteine
Coordinate
266
PsiMod
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
A protein modification that effectively removes or replaces an L-valine.
Name
L-alanine 267 replaced with glycine
Coordinate
267
PsiMod
A protein modification that effectively removes or replaces an L-alanine.
A protein modification that effectively converts a source amino acid residue to a glycine.
Name
L-glutamic acid 268 replaced with L-lysine
Coordinate
268
PsiMod
A protein modification that effectively removes or replaces an L-glutamic acid.
A protein modification that effectively converts a source amino acid residue to L-lysine.
Name
L-alanine 269 replaced with glycine
Coordinate
269
PsiMod
A protein modification that effectively removes or replaces an L-alanine.
A protein modification that effectively converts a source amino acid residue to a glycine.
Name
L-phenylalanine 270 replaced with L-isoleucine
Coordinate
270
PsiMod
A protein modification that effectively removes or replaces an L-phenylalanine.
A protein modification that effectively converts a source amino acid residue to an L-isoleucine.
Name
L-arginine 271 replaced with L-proline
Coordinate
271
PsiMod
A protein modification that effectively converts a source amino acid residue to L-proline.
A protein modification that effectively removes or replaces an L-arginine.
Name
L-valine 272 replaced with L-cysteine
Coordinate
272
PsiMod
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
A protein modification that effectively removes or replaces an L-valine.
Name
L-alanine 273 replaced with glycine
Coordinate
273
PsiMod
A protein modification that effectively removes or replaces an L-alanine.
A protein modification that effectively converts a source amino acid residue to a glycine.
Name
L-valine 274 replaced with L-cysteine
Coordinate
274
PsiMod
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
A protein modification that effectively removes or replaces an L-valine.
Name
L-alanine 275 replaced with glycine
Coordinate
275
PsiMod
A protein modification that effectively removes or replaces an L-alanine.
A protein modification that effectively converts a source amino acid residue to a glycine.
Name
L-alanine 276 replaced with L-cysteine
Coordinate
276
PsiMod
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
A protein modification that effectively removes or replaces an L-alanine.
Name
glycine 277 replaced with L-tryptophan
Coordinate
277
PsiMod
A protein modification that effectively removes or replaces an glycine.
A protein modification that effectively converts a source amino acid residue to L-tryptophan.
Disease
Name Identifier Synonyms
mucopolysaccharidosis 12798 Mucopolysaccharidosis, Mucopolysaccharidoses, Mucopolysaccharidosis (disorder), Mucopolysaccharidosis, Mucopolysaccharidosis NOS (disorder), mucopolysaccharidosis, Mucopolysaccharidosis [Ambiguous]
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